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Article

Machado‐Joseph disease gene product is a cytoplasmic protein widely expressed in brain

1 Apr 1997

Abstract excerpt

Machado-Joseph disease (MJD) is one of at least six neurodegenerative diseases caused by expansion of a CAG repeat encoding a polyglutamine tract in the disease protein. To study the molecular mechanism of disease, we isolated both normal and expanded repeat MJD1 cDNAs, and generated antiserum against the recombinant gene product, called ataxin-3. Using this antiserum, we demonstrate that in disease tissue, both...

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PMID: 9124802
DOI: 10.1002/ana.410410408

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Machado‐Joseph disease gene product is a cytoplasmic protein widely expressed in brainPMID 9124802Read ↗

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Striatal and nigral pathology in a lentiviral rat model of Machado-Joseph diseaseSemantic proximity Read ↗

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Overexpression of mutant ataxin-3 in mouse cerebellum induces ataxia and cerebellar neuropathology.Semantic proximity Read ↗

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Machado-Joseph Disease: from first descriptions to new perspectives.Semantic proximity Read ↗

Re-establishing ataxin-2 downregulates translation of mutant ataxin-3 and alleviates Machado-Joseph disease.Semantic proximity Read ↗

N-terminal ataxin-3 causes neurological symptoms with inclusions, endoplasmic reticulum stress and ribosomal dislocation.Semantic proximity Read ↗

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